Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000778122 | SCV001146827 | likely pathogenic | Oculocerebrodental syndrome | 2019-10-02 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Oculoskeletodental syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PVS1-Moderate, PS3-Moderate. |
OMIM | RCV000778122 | SCV000914232 | pathogenic | Oculocerebrodental syndrome | 2019-05-21 | no assertion criteria provided | literature only |